Hedgehog Signaling Pathway Database
 
Human Mutations - Gli1
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
          L > I 495 N   DBSNP:rs12578516      
          R > G 701 N   DBSNP:rs11553626      
          D > A 884 N   SWISS:VAR_015114   10951255  
          G > D 933 N   DBSNP:rs2228224      
          G > V 1012 N   DBSNP:rs2229300      
          E > Q 1100 N   DBSNP:rs2228226      
          E > E 192 S   DBSNP:rs2228225      
intronic 56144355 A T forward           DBSNP:rs12322636      
intronic 56144681 C T reverse           DBSNP:rs3817475      
intronic 56144706 A C reverse           DBSNP:rs3782124      
intronic 56145102 C T reverse           DBSNP:rs3817474      
intronic 56146199 C T reverse           DBSNP:rs2292657      
intronic 56146889 A G forward           DBSNP:rs11837270      
intronic 56146963 A T forward           DBSNP:rs11832963      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
intronic 56147239 C T forward           DBSNP:rs11830874    
intronic 56148411 C T forward           DBSNP:rs11610403    
intronic 56148469 A T forward           DBSNP:rs11172226    
intronic 56148478 C T forward           DBSNP:rs11172227    
intronic 56148545 C T forward           DBSNP:rs11172228    
intronic 56148547 C T forward           DBSNP:rs11172229    
intronic 56149068 C T forward           DBSNP:rs492239    
Untranslated 56141447 A G forward           DBSNP:rs4760255    
Untranslated 56142281 A G reverse           DBSNP:rs3825077    
Untranslated 56142563 A C forward           DBSNP:rs11615505    
Untranslated 56142934 C G forward           DBSNP:rs10876986    
Untranslated 56143043 C G forward           DBSNP:rs4760148    
Untranslated 56143200 A G reverse           DBSNP:rs3782126    
Untranslated 56143267 C T reverse           DBSNP:rs3782125    
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
Untranslated 56152195 A C forward           DBSNP:rs474058    

Last updated 28-Aug-2006

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